Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects

2002 ◽  
Vol 116A (2) ◽  
pp. 129-135 ◽  
Author(s):  
Murat Derbent ◽  
Zerrin Y?lmaz ◽  
Volkan Baltac? ◽  
Arda Sayg?l? ◽  
Birg�l Varan ◽  
...  
Keyword(s):  
Heart Defects ◽  
22Q11.2 Deletion ◽  
Conotruncal Heart Defects ◽  
Chromosome 22Q11.2 ◽  
Phenotypic Features

scholarly journals Investigation ofTBX1gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects: Table 1

Heart Asia ◽  
2013 ◽  
Vol 5 (1) ◽  
pp. 200-202 ◽  
Author(s):  
Hamid Ganji ◽  
Mansoor Salehi ◽  
Maryam Sedghi ◽  
Hossein Abdali ◽  
Nayereh Nouri ◽  
...  
Keyword(s):  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Conotruncal Heart Defects ◽  
Iranian Children

scholarly journals Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

2020 ◽  
Vol 106 (1) ◽  
pp. 26-40 ◽  
Author(s):  
Yingjie Zhao ◽  
Alexander Diacou ◽  
H. Richard Johnston ◽  
Fadi I. Musfee ◽  
Donna M. McDonald-McGinn ◽  
...  
Keyword(s):  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Complete Sequence ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Conotruncal Heart Defects

Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery

2008 ◽  
Vol 167 (10) ◽  
pp. 1135-1140 ◽  
Author(s):  
Lidia Ziolkowska ◽  
Wanda Kawalec ◽  
Anna Turska-Kmiec ◽  
Malgorzata Krajewska-Walasek ◽  
Grazyna Brzezinska-Rajszys ◽  
...  
Keyword(s):  
Cardiac Surgery ◽  
Heart Defects ◽  
Conotruncal Heart Defects ◽  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion ◽  
Chromosome 22Q11.2 Microdeletion ◽  
Cardiovascular Anomalies

22q11.2 deletion mosaicism in patients with conotruncal heart defects

2006 ◽  
Vol 76 (4) ◽  
pp. 262-265 ◽  
Author(s):  
Li Jianrong ◽  
Liu Yinglong ◽  
Lv Xiaodong ◽  
Yu Cuntao ◽  
Cui Bin ◽  
...  
Keyword(s):  
Heart Defects ◽  
22Q11.2 Deletion ◽  
Conotruncal Heart Defects

scholarly journals Novel TBX1loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Yue-Juan Xu ◽  
Sun Chen ◽  
Jian Zhang ◽  
Shao-Hai Fang ◽  
Qian-Qian Guo ◽  
...  
Keyword(s):  
Heart Defects ◽  
Chinese Patients ◽  
22Q11.2 Deletion ◽  
Conotruncal Heart Defects

scholarly journals Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

2019 ◽  
Vol 111 (13) ◽  
pp. 888-905
Author(s):  
Hongbo M. Xie ◽  
Deanne M. Taylor ◽  
Zhe Zhang ◽  
Donna M. McDonald‐McGinn ◽  
Elaine H. Zackai ◽  
...  
Keyword(s):  
Copy Number ◽  
Heart Defects ◽  
Copy Number Variations ◽  
Developmental Pathways ◽  
22Q11.2 Deletion ◽  
Conotruncal Heart Defects
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